Scientific reports · 2017
GWAS follow-up study of esophageal squamous cell carcinoma identifies potential genetic loci associated with family history of upper gastrointestinal cancer.
СтатьяResearch Support, N.I.H., IntramuralНазвание и аннотация: Перевод в очереди
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Song Xin, Li Wen-Qing, Hu Nan, Zhao Xue Ke, Wang Zhaoming, Hyland Paula L, Jiang Tao, Kong Guo Qiang, Su Hua, Wang Chaoyu, Wang Lemin, Sun Li, Fan Zong Min, Meng Hui, Zhang Tang Juan, Ji Ling Fen, Hu Shou Jia, Han Wei Li, Wu Min Jie, Zheng Peng Yuan, Lv Shuang, Li Xue Min, Zhou Fu You, Burdett Laurie, Ding Ti, Qiao You-Lin, Fan Jin-Hu, Han Xiao-You, Giffen Carol, Tucker Margaret A, Dawsey Sanford M, Freedman Neal D, Chanock Stephen J, Abnet Christian C, Taylor Philip R, Wang Li-Dong, Goldstein Alisa M
Аннотация
Based on our initial genome-wide association study (GWAS) on esophageal squamous cell carcinoma (ESCC) in Han Chinese, we conducted a follow-up study to examine the single nucleotide polymorphisms (SNPs) associated with family history (FH) of upper gastrointestinal cancer (UGI) cancer in cases with ESCC. We evaluated the association between SNPs and FH of UGI cancer among ESCC cases in a stage-1 case-only analysis of the National Cancer Institute (NCI, 541 cases with FH and 1399 without FH) and Henan GWAS (493 cases with FH and 869 without FH) data (discovery phase). The top SNPs (or their surrogates) from discovery were advanced to a stage-2 evaluation in additional Henan subjects (2801 cases with FH and 3136 without FH, replication phase). A total of 19 SNPs were associated with FH of UGI cancer in ESCC cases with P < 10-5 in the stage-1 meta-analysis of NCI and Henan GWAS data. In stage-2, the association for rs79747906 (located at 18p11.31, P = 5.79 × 10-6 in discovery) was replicated (P = 0.006), with a pooled-OR of 1.59 (95%CI: 1.11-2.28). We identified potential genetic variants associated with FH of UGI cancer. Our findings may provide important insights into new low-penetrance susceptibility regions involved in the susceptibility of families with multiple UGI cancer cases.